Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000323534 [[152880028, 152886265]] [[152880482, 152881034]]
NM_002886 [[152880000, 152888413]] [[152880482, 152881034]]
Promoter
Chrom Start End Description
chr3 152879985 152880038 CAGE_peak_1_at_RAP2B_5end
chr3 152880098 152880109 CAGE_peak_2_at_RAP2B_5end
chr3 152880163 152880181 CAGE_peak_3_at_RAP2B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I153283 153283426 153288196 1.52 [{'connected_gene': 'RAP2B', 'score': 19.2}, {'connected_gene': 'ENSG00000244268', 'score': 11.94}, {'connected_gene': 'P2RY1', 'score': 1.59}, {'connected_gene': 'LOC105374166', 'score': 0.29}, {'connected_gene': 'LOC105374164', 'score': 0.18}, {'connected_gene': 'GC03P153002', 'score': 0.06}]
chr3 GH03I153288 153288981 153290000 1.37 [{'connected_gene': 'RAP2B', 'score': 21.88}, {'connected_gene': 'ENSG00000244268', 'score': 12.07}, {'connected_gene': 'P2RY1', 'score': 2.45}, {'connected_gene': 'LOC105374166', 'score': 0.29}, {'connected_gene': 'LOC105374164', 'score': 0.17}, {'connected_gene': 'GC03P153002', 'score': 0.06}]
chr3 GH03I153292 153292802 153293940 1.19 [{'connected_gene': 'RAP2B', 'score': 7.04}, {'connected_gene': 'P2RY1', 'score': 1.79}, {'connected_gene': 'LOC105374166', 'score': 0.31}, {'connected_gene': 'LOC105374164', 'score': 0.17}, {'connected_gene': 'GC03P153002', 'score': 0.06}]
chr3 GH03I153246 153246590 153248399 0.81 [{'connected_gene': 'RAP2B', 'score': 27.06}, {'connected_gene': 'ENSG00000244268', 'score': 11.49}, {'connected_gene': 'P2RY1', 'score': 2.35}, {'connected_gene': 'LOC105374164', 'score': 0.26}, {'connected_gene': 'LOC105374166', 'score': 0.19}, {'connected_gene': 'GC03P153002', 'score': 0.07}]
chr3 GH03I153251 153250596 153250800 0.42 [{'connected_gene': 'RAP2B', 'score': 24.19}, {'connected_gene': 'ENSG00000244268', 'score': 11.41}, {'connected_gene': 'P2RY1', 'score': 2.13}, {'connected_gene': 'LOC105374164', 'score': 0.25}, {'connected_gene': 'LOC105374166', 'score': 0.2}, {'connected_gene': 'GC03P153002', 'score': 0.07}]
chr3 GH03I153245 153245111 153245293 0.37 [{'connected_gene': 'RAP2B', 'score': 20.66}, {'connected_gene': 'ENSG00000244268', 'score': 11.04}, {'connected_gene': 'P2RY1', 'score': 1.98}, {'connected_gene': 'LOC105374164', 'score': 0.26}, {'connected_gene': 'LOC105374166', 'score': 0.18}, {'connected_gene': 'GC03P153002', 'score': 0.07}]
chr3 GH03I153158 153158940 153167942 2.65 [{'connected_gene': 'RAP2B', 'score': 559.97}, {'connected_gene': 'ENSG00000244268', 'score': 550.77}, {'connected_gene': 'P2RY1', 'score': 1.15}, {'connected_gene': 'GC03P153191', 'score': 0.31}, {'connected_gene': 'GC03P153002', 'score': 0.1}]
chr3 GH03I152865 152865703 152866081 0.56 [{'connected_gene': 'RAP2B', 'score': 6.8}, {'connected_gene': 'P2RY1', 'score': 2.67}, {'connected_gene': 'GC03P152840', 'score': 0.31}, {'connected_gene': 'GC03P153002', 'score': 0.12}]
chr3 GH03I153137 153137330 153142175 1.71 [{'connected_gene': 'RAP2B', 'score': 17.6}, {'connected_gene': 'ENSG00000244268', 'score': 11.68}, {'connected_gene': 'LOC105374163', 'score': 4.92}, {'connected_gene': 'LOC100418712', 'score': 0.39}, {'connected_gene': 'GC03P153002', 'score': 0.12}]
chr3 GH03I152857 152857123 152857514 0.87 [{'connected_gene': 'P2RY1', 'score': 14.52}, {'connected_gene': 'RAP2B', 'score': 5.49}, {'connected_gene': 'GC03P152840', 'score': 0.37}, {'connected_gene': 'GC03P153002', 'score': 0.11}]
chr3 GH03I153320 153320048 153320400 0.42 [{'connected_gene': 'LOC105374166', 'score': 550.77}, {'connected_gene': 'RAP2B', 'score': 1.73}, {'connected_gene': 'LOC105374164', 'score': 0.13}, {'connected_gene': 'GC03P153002', 'score': 0.06}]
chr3 GH03I153130 153130202 153131599 1.49 [{'connected_gene': 'LOC100418712', 'score': 550.77}, {'connected_gene': 'RAP2B', 'score': 6.72}, {'connected_gene': 'ENSG00000241220', 'score': 4.21}, {'connected_gene': 'ENSG00000244268', 'score': 0.29}, {'connected_gene': 'GC03P153002', 'score': 0.13}]
chr3 GH03I153276 153276845 153277835 0.63 [{'connected_gene': 'ENSG00000244268', 'score': 11.35}, {'connected_gene': 'RAP2B', 'score': 11.35}, {'connected_gene': 'LOC105374166', 'score': 0.26}, {'connected_gene': 'LOC105374164', 'score': 0.19}, {'connected_gene': 'GC03P153002', 'score': 0.06}]
chr3 GH03I153290 153290401 153290600 0.49 [{'connected_gene': 'ENSG00000244268', 'score': 12.07}, {'connected_gene': 'RAP2B', 'score': 12.07}, {'connected_gene': 'LOC105374166', 'score': 0.31}, {'connected_gene': 'LOC105374164', 'score': 0.17}, {'connected_gene': 'GC03P153002', 'score': 0.06}]
chr3 GH03I153250 153250001 153250200 0.31 [{'connected_gene': 'ENSG00000244268', 'score': 11.41}, {'connected_gene': 'RAP2B', 'score': 11.41}, {'connected_gene': 'LOC105374164', 'score': 0.25}, {'connected_gene': 'LOC105374166', 'score': 0.19}, {'connected_gene': 'GC03P153002', 'score': 0.07}]
chr3 GH03I153231 153231612 153233696 0.95 [{'connected_gene': 'ENSG00000244268', 'score': 12.01}, {'connected_gene': 'RAP2B', 'score': 12.01}, {'connected_gene': 'LOC105374164', 'score': 0.31}, {'connected_gene': 'LOC105374166', 'score': 0.17}, {'connected_gene': 'GC03P153002', 'score': 0.07}]
chr3 GH03I153248 153248801 153249000 0.38 [{'connected_gene': 'ENSG00000244268', 'score': 11.41}, {'connected_gene': 'RAP2B', 'score': 11.41}, {'connected_gene': 'LOC105374164', 'score': 0.25}, {'connected_gene': 'LOC105374166', 'score': 0.19}, {'connected_gene': 'GC03P153002', 'score': 0.07}]
chr3 GH03I153219 153219200 153219600 0.2 [{'connected_gene': 'ENSG00000244268', 'score': 13.29}, {'connected_gene': 'RAP2B', 'score': 13.29}, {'connected_gene': 'LOC105374164', 'score': 0.37}, {'connected_gene': 'LOC105374166', 'score': 0.15}, {'connected_gene': 'GC03P153002', 'score': 0.08}]
chr3 GH03I153220 153220048 153224527 1.12 [{'connected_gene': 'ENSG00000244268', 'score': 13.28}, {'connected_gene': 'RAP2B', 'score': 13.28}, {'connected_gene': 'LOC105374164', 'score': 0.37}, {'connected_gene': 'LOC105374166', 'score': 0.15}, {'connected_gene': 'GC03P153002', 'score': 0.08}]
chr3 GH03I153209 153209351 153211203 0.82 [{'connected_gene': 'ENSG00000244268', 'score': 12.43}, {'connected_gene': 'RAP2B', 'score': 12.43}, {'connected_gene': 'LOC105374164', 'score': 0.44}, {'connected_gene': 'LOC105374166', 'score': 0.14}, {'connected_gene': 'GC03P153002', 'score': 0.08}]
chr3 GH03I153028 153028430 153030121 0.74 [{'connected_gene': 'ENSG00000244268', 'score': 11.12}, {'connected_gene': 'RAP2B', 'score': 11.12}, {'connected_gene': 'GC03P153002', 'score': 0.31}, {'connected_gene': 'HMGN2P13', 'score': 0.28}]
chr3 GH03I153182 153182272 153183381 0.49 [{'connected_gene': 'GC03P153191', 'score': 0.44}, {'connected_gene': 'RAP2B', 'score': 0.34}, {'connected_gene': 'GC03P153002', 'score': 0.09}]